P11T (p.Pro11Thr) variant of CYP21A2 (Steroid 21-hydroxylase)
P11T (p.Pro11Thr) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- ExAC rs764653902
- TOPMed rs764653902
- gnomAD rs764653902
- Missense
- Variant Prioritization Score for Impact Estimate 0.0649
- CADD 0.73
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available